BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

120 related articles for article (PubMed ID: 9640203)

  • 1. Paucity of signs in X linked ocular albinism with a 700 kb deletion spanning the OA1 gene.
    Tijmes NT; Bergen AB; De Jong PT
    Br J Ophthalmol; 1998 Apr; 82(4):457-8. PubMed ID: 9640203
    [No Abstract]   [Full Text] [Related]  

  • 2. OA1 mutations and deletions in X-linked ocular albinism.
    Schnur RE; Gao M; Wick PA; Keller M; Benke PJ; Edwards MJ; Grix AW; Hockey A; Jung JH; Kidd KK; Kistenmacher M; Levin AV; Lewis RA; Musarella MA; Nowakowski RW; Orlow SJ; Pagon RS; Pillers DA; Punnett HH; Quinn GE; Tezcan K; Wagstaff J; Weleber RG
    Am J Hum Genet; 1998 Apr; 62(4):800-9. PubMed ID: 9529334
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1).
    Lam BL; Fingert JH; Shutt BC; Singleton EM; Merin LM; Brown HH; Sheffield VC; Stone EM
    Ophthalmic Genet; 1997 Dec; 18(4):175-84. PubMed ID: 9457748
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Isolation and characterization of a mouse homolog of the X-linked ocular albinism (OA1) gene.
    Newton JM; Orlow SJ; Barsh GS
    Genomics; 1996 Oct; 37(2):219-25. PubMed ID: 8921399
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism.
    Martinez-Garcia M; Riveiro-Alvarez R; Villaverde-Montero C; Cantalapiedra D; Garcia-Sandoval B; Ayuso C; Trujillo-Tiebas MJ
    Clin Exp Ophthalmol; 2010 Jul; 38(5):489-95. PubMed ID: 20649618
    [TBL] [Abstract][Full Text] [Related]  

  • 6. New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene.
    Oetting WS
    Hum Mutat; 2002 Feb; 19(2):85-92. PubMed ID: 11793467
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Ocular albinism with infertility and late-onset sensorineural hearing loss.
    Fabian-Jessing BK; Vestergaard EM; Plomp AS; Bergen AA; Dreschler WA; Duno M; Winiarska BS; Neumann L; Gaihede M; Vorum H; Petersen MB
    Am J Med Genet A; 2018 Jul; 176(7):1587-1593. PubMed ID: 30160833
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.
    Schiaffino MV; Bassi MT; Galli L; Renieri A; Bruttini M; De Nigris F; Bergen AA; Charles SJ; Yates JR; Meindl A
    Hum Mol Genet; 1995 Dec; 4(12):2319-25. PubMed ID: 8634705
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel human pathological mutations. Gene symbol: OA1. Disease: albinism, ocular.
    Martinez-Garcia M; Trujillo-Tiebas MJ; Villaverde C; López-Martínez MA; Ayuso C
    Hum Genet; 2009 Apr; 125(3):349. PubMed ID: 19320034
    [No Abstract]   [Full Text] [Related]  

  • 10. Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation.
    Xiao X; Zhang Q
    Am J Med Genet A; 2009 Aug; 149A(8):1786-8. PubMed ID: 19610097
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC.
    Sallmann GB; Bray PJ; Rogers S; Quince A; Cotton RG; Carden SM
    Ophthalmic Genet; 2006 Jun; 27(2):43-9. PubMed ID: 16754205
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutational analysis of the OA1 gene in ocular albinism.
    Camand O; Boutboul S; Arbogast L; Roche O; Sternberg C; Sutherland J; Levin A; Héon E; Menasche M; Dufier J; Abitbol M
    Ophthalmic Genet; 2003 Sep; 24(3):167-73. PubMed ID: 12868035
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Deletion in the OA1 gene in a family with congenital X linked nystagmus.
    Preising M; Op de Laak JP; Lorenz B
    Br J Ophthalmol; 2001 Sep; 85(9):1098-103. PubMed ID: 11520764
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Ocular albinism type 1: more than meets the eye.
    Shen B; Samaraweera P; Rosenberg B; Orlow SJ
    Pigment Cell Res; 2001 Aug; 14(4):243-8. PubMed ID: 11549106
    [TBL] [Abstract][Full Text] [Related]  

  • 15. GPR143 mutational analysis in two Italian families with X-linked ocular albinism.
    Micale L; Augello B; Fusco C; Turturo MG; Granatiero M; Piemontese MR; Zelante L; Cecconi A; Merla G
    Genet Test Mol Biomarkers; 2009 Aug; 13(4):527-31. PubMed ID: 19604113
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome.
    Bassi MT; Schiaffino MV; Renieri A; De Nigris F; Galli L; Bruttini M; Gebbia M; Bergen AA; Lewis RA; Ballabio A
    Nat Genet; 1995 May; 10(1):13-9. PubMed ID: 7647783
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of two novel mutations in families with X-linked ocular albinism.
    Iannaccone A; Gallaher KT; Buchholz J; Jennings BJ; Neitz M; Sidjanin DJ
    Mol Vis; 2007 Oct; 13():1856-61. PubMed ID: 17960122
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Retinal function in X-linked ocular albinism (OA1).
    Nusinowitz S; Sarraf D
    Curr Eye Res; 2008 Sep; 33(9):789-803. PubMed ID: 18798082
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Intracellular distribution and late endosomal effects of the ocular albinism type 1 gene product: consequences of disease-causing mutations and implications for melanosome biogenesis.
    Shen B; Rosenberg B; Orlow SJ
    Traffic; 2001 Mar; 2(3):202-11. PubMed ID: 11260525
    [TBL] [Abstract][Full Text] [Related]  

  • 20. X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats.
    Bassi MT; Ramesar RS; Caciotti B; Winship IM; De Grandi A; Riboni M; Townes PL; Beighton P; Ballabio A; Borsani G
    Am J Hum Genet; 1999 Jun; 64(6):1604-16. PubMed ID: 10330347
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.